Por favor, use este identificador para citar o enlazar este ítem:
http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/1448| Título : | Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: Report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay |
| Creador: | Alcántara Ortigoza, Miguel Ángel |
| Nivel de acceso: | Open access |
| Palabras clave : | Alelos Sistemas de Transporte de Aminoácidos Neutros - genética Cistinosis - etiología Cistinosis - genética Exones Genotipo Humanos México Mutación Linaje Reacción en Cadena de la Polimerasa - métodos Polimorfismo Conformacional Retorcido-Simple Eliminación de Secuencia Alleles Amino Acid Transport Systems, Neutral - genetics Cystinosis - etiology Cystinosis - genetics Exons Genotype Humans Mexico Mutation Pedigree Polymerase Chain Reaction - methods Polymorphism, Single-Stranded Conformational Sequence Deletion |
| Descripción : | Objective: Identify CTNS gene mutations in nephropathic cystinosis Mexican patients. Subjects and Methods: Eleven patients were included, nine presenting infantile nephropathic cystinosis and two siblings with the juvenile phenotype. The common 57-kb deletion was detected by multiplex PCR using large deletion marker-2 (LDM-2)/exon 4 set primers. Those alleles negative for 57-kb deletion were screened by single strand confirmation polymorphism (SSCP) and subsequent direct sequencing. Results: In our sample, five mutations previously reported are identified: 57-kb deletion, EX4_EX5del, c.985_986insA, c.357_360delGACT, and c.537_557del. We detect a false assignation of 57-kb deletion homozygous genotype by using the LDM-2/exon 4 primers. In addition, four novel and severe mutations are identified: c.379delC, c.1090_1093delACCAinsCG, c.986C>G (p.T216R), and c.400+5G>A. Conclusions: Our sample of Mexican patients display allelic heterogeneity as compared to European or North American cystinosis cases. The identification of novel mutations might suggest the presence of exclusive American CTNS alleles in Mexican population. In order to prevent the false positive assignation of 57-kb deletion genotype, as caused by the presence of another type of intragenic CTNS gross deletion, we propose to analyze a different control CTNS exon to those originally reported in both LDM multiplex PCR assays, especially when parental DNA samples are not available. © Copyright 2008, Mary Ann Liebert, Inc. |
| Colaborador(es) u otros Autores: | Belmont-Martínez L. Vela-Amieva M. González-Del Angel A. |
| Fecha de publicación : | 2008 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1089/gte.2008.0014 |
| Fuente: | Genetic Testing 12(3):409 - 414 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/1448 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
Ficheros en este ítem:
No hay ficheros asociados a este ítem.
Los ítems de DSpace están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.